Research & Innovation
Publications

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

#2018

#JOURNAL OF NEUROLOGY

PMU Authors
Florian Lagler, Susanne Grinzinger

All Authors
W N Löscher, M. Huemer, T M Stulnig, P. Simschitz, S. Iglseder, C. Eggers, H. Moser, D. Möslinger, M. Freilinger, Florian Lagler, Susanne Grinzinger, M. Reichhardt, R E Bittner, W M Schmidt, U. Lex, M. Brunner-Krainz, S. Quasthoff, J V Wanschitz

Journal association
JOURNAL OF NEUROLOGY

Abstract

Keywords

FEATURES, COHORT, PHENOTYPE, DIAGNOSIS, HYPERCKEMIA, NATIONWIDE, ENZYME REPLACEMENT THERAPY, SPECTRUM, ACID MALTASE DEFICIENCY

Latest Publication

#2026

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#2026

#Original Article

Dana Macejova, Jakub Kollar, Zdenek Dvorak, Daniela Schuster, Julius Brtko Tributyltin propionate and tributyltin salicylate represent novel RXR ligands, Retinoid X receptor ligands; Thyroid hormone receptors; Transcriptional activity; Tributyltin propionate; Tributyltin salicylate; Vitamin D(3)receptor;

#2026

#Book

Günter Schiepek, Helmut Schöller, Clemens Fartacek, Wolfgang Aichhorn, Alexander Schorb Human Dynamics in Psychotherapy and Related Fields

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Paracelsus Medical University (PMU) Research & Innovation Publications

Pompe disease in Austria: clinical, genetic and...